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rs63750803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 Lynch syndrome, pathogenic mutation
(-;TT) 6 Lynch syndrome, pathogenic mutation
(D;D) 0 common genotype
(I;I) 0
Make rs63750803(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478422
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750803
dbSNP (classic)rs63750803
ClinGenrs63750803
ebirs63750803
HLIrs63750803
Exacrs63750803
Gnomadrs63750803
Varsomers63750803
LitVarrs63750803
Maprs63750803
PheGenIrs63750803
Biobankrs63750803
1000 genomesrs63750803
hgdprs63750803
ensemblrs63750803
geneviewrs63750803
scholarrs63750803
googlers63750803
pharmgkbrs63750803
gwascentralrs63750803
openSNPrs63750803
23andMers63750803
SNPshotrs63750803
SNPdbers63750803
MSV3drs63750803
GWAS Ctlgrs63750803
Max Magnitude6
ClinVar
Risk rs63750803(T;T) rs63750803(TT;TT)
Alt rs63750803(T;T) rs63750803(TT;TT)
Reference Rs63750803(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47705560_47705561dupTT; NC_000002.11:g.47705561dupT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076462.2, RCV000076463.2,